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Analyses of osteoblast cultures and bone from individuals with osteogenesis imperfecta showed anomalies in the metabolism of collagen and noncollagenous proteins. 12,30,79,80 These findings indicate that the osteogenesis imperfecta phenotype likely results from a complex interplay of primary and secondary metabolic events in Type I collagen-producing cells.
Histologic evaluation of bone from babies with perinatal lethal osteogenesis imperfecta Type II showed a lack of cortical bone and sparse trabecular bone. The trabeculae contain woven bone with large immature osteoblasts. 25,26 Quantitative histomorphometric evaluation of iliac crest bone from patients with osteogenesis imperfecta Types I, III, and IV showed that the lamellar structure was maintained. Irrespective of the underlying collagen mutation, the biopsy specimens from the iliac crest showed that the cortical widths and cancellous bone volumes were reduced whereas bone remodeling was increased. 70 The decreased cancellous bone volumes were attributable to the formation of fewer trabeculae and to a lack of thickening of trabeculae with growth. Children with osteogenesis imperfecta Type I had higher cancellous bone volumes than children with osteogenesis imperfecta Types III and IV. The differences in cancellous bone volumes were attributable to the higher number of trabeculae in children with Type I osteogenesis imperfecta whereas the thickness of the trabeculae was similar in children with osteogenesis imperfecta Types I, III, and IV. The histomorphometric parameters of bone formation and bone resorption indicated that cancellous bone metabolism was increased markedly. The yearly turnover of cancellous bone was estimated to be 40% and 120% higher in patients with osteogenesis Types I and III, respectively, than in controls. 11,43,70 The latter findings showed that there was a direct relationship between the increase in bone turnover and the severity of the bone disease.
Natural History
Individuals with classic osteogenesis imperfecta Type I have normal longevity. 58,59,61 Fractures commence when the child starts to stand and bone fragility persists throughout life. 74 Although fractures may seem to cease in adolescence, they can recur after inactivity, after childbirth, and with aging. During the last trimester of pregnancy and during early breast feeding, approximately 6% of the mother?s bone mass is transferred to her baby. 74 Consequently, fractures may recommence after pregnancies. The fracture frequency also increases dramatically after menopause in woman and beyond the fifth decade in men with osteogenesis imperfecta Type I. 60 Joint hypermobility, particularly in the hands, wrists, and feet can produce pain and disability. 75 Hearing impairment also is common.
The longevity of babies with the perinatal lethal Type II form of osteogenesis imperfecta is dependent on the integrity of the thorax. 58 All bones contain multiple fractures in varying stages of healing. 25 The bones are severely osteoporotic, deformed, and often lack cortical bone. The vertebrae are flattened.
Children with the progressively deforming osteogenesis imperfecta Type III are the most frequent group to need orthopaedic care. 21 Standing and walking often are impossible because of severe osteoporosis, progressive deformities, and recurring fractures. Progressive scoliosis with severe platyspondyly also is common. Dentinogenesis imperfecta is common and hearing impairment also can occur. Longevity is limited by the progressive thoracic deformities and the occurrence of repeated episodes of pneumonia. 58,61
Children with osteogenesis imperfecta Type IV vary considerably in their clinical severity. 74 Their severity often is intermediate between the severities of osteogenesis imperfecta Types I and III. Basilar impression, attributable to the descent of the skull on the cervical spine with consequent brain stem compression occurs in approximately 70% of children with osteogenesis imperfecta Type IV. 38,73 It is less frequent in children with other forms of osteogenesis imperfecta.
Treatment
Many endocrinologic, surgical, and orthotic methods have been used to improve the natural history of osteogenesis imperfecta. Until recently, the correction of deformities, intramedullary rodding of long bones, orthotic support, muscle strengthening and mobility devices, such as wheelchairs, were the mainstays of treatment. 21 However, the treatment of patients with osteogenesis imperfecta is undergoing major changes as a result of new approaches to improving bone mass and bone strength. 13
Improving Bone Mass
Many endocrine and related methods have been used to increase bone mass and to reduce the frequency of fractures. Early methods included the use of sodium fluoride, calcitonin, anabolic steroids, flavanoids, vitamin C, and vitamin D. 23 The efficacy of these agents was unclear because of the small and uncontrolled nature of the trials. More recently, recombinant human growth hormone has been used because of its anabolic effects on bone. 1,48,49,81,82 Overall, these endocrine and related treatments produced minimal or no demonstrable improvement in the bone mass and natural history of the condition.
Two new approaches to improving the bone mass are, however, undergoing continuing evaluation. The first approach involves the use of bisphosphonates to decrease the resorption of bone and to increase the formation of bone. 32 The second approach is the use of bone marrow transplantation as means of introducing normal MSCs that have the capacity to differentiate into normal osteoblasts. 40
Bisphosphonates
Bisphosphonates are synthetic analogs of pyrophosphate and are potent inhibitors of bone resorption. 33 They are used widely in the treatment of osteoporosis in adults but until recently they have been used infrequently in children. During the past decade, bisphosphonates have been shown in cohort studies to be highly effective in improving bone mass in children with severe forms of osteogenesis imperfecta. 3,9,32,33,46 Cyclic intravenous pamidronate is given in a dosage of 7.5 mg/kg/year at 4-to 6-monthly intervals. 33 The treatment resulted in biochemical, histomorphometric, and radiographic evidence of decreased bone resorption and increased bone formation when compared with pretreatment and historic control values. The increase in bone formation mainly was subperiosteal with consequent thickening of the bone cortices. The bone mineral density also was improved significantly and the fracture rate was reduced significantly. The treatment did not alter fracture healing or the appearance of the growth plates. Longitudinal growth seemed to be better than in controls. The amount of growth between the doses of pamidronate was measured easily from the growth lines (Fig 1) that were visible on the radiographs. 27,33 All patients who were treated reported substantial relief of chronic pain and fatigue. Dependence on mobility aids was reduced in half of the children and was unaltered in the other half. Apart from the well-known acute phase reaction of fever and bone pain after the first infusion cycle, the pamidronate treatment did not have any side effects at the dosage given.

Intravenous pamidronate is most effective when given to babies and can be given shortly after birth to severely affected babies. 65 The treatment rapidly improves pain, which is a major problem in the initial treatment of babies with severe osteogenesis imperfecta. Radiographs show considerable remodeling of the bones with thickening of the cortices. For example, crumpled femurs and flattened vertebrae resume more normal shapes and cortical thicknesses.
The results to date suggest that intravenous pamidronate is an effective form of treatment for severe forms of osteogenesis imperfecta, particularly when commenced in infancy and in early childhood. The treatment is not a cure for osteogenesis imperfecta and does not alter the underlying genetic causes of the disease. Randomized trials are likely to provide more quantitative information about the reported gains. It seems however, that intravenous pamidronate favorably affects the natural history of the severe forms of the disease irrespective of the underlying collagen mutations. However, there are many remaining questions that need to be resolved including the long-term efficacy and safety of the treatment, the duration of treatment, and the use of alternative intravenous and oral bisphosphonates, and the indications for treatment of children and adults with the milder osteogenesis imperfecta Type I.
Mesenchymal Stromal Cells and Somatic Gene Therapy
Bone marrow contains nonhematopoietic precursor cells that can differentiate into mature mesenchymal cells. 69 The precursor cells, referred to as mesenchymal stromal or stem cells, have the capacity to differentiate in vitro and in vivo into osteogenic, chondrogenic, fibrogenic, and adipogenic lineages. 62,64,67,68 These observations underlie the investigation of unmodified and modified MSCs for cell therapy or somatic gene therapy of osteogenesis imperfecta.
In an average human bone marrow graft, there are only two to five MSCs per 1 ? 106 mononuclear cells. 76 Consequently, it is not surprising that only low levels of engraftment, approximately 1% to 2%, were observed after allogeneic whole bone marrow transplantation in a small group of children with osteogenesis imperfecta. 39 An alternative approach is to expand the number of MSCs in ex vivo cultures and then to infuse them into the recipient. 28,45,68 Pereira et al 62 infused normal mouse MSCs into irradiated transgenic mice with osteogenesis imperfecta. In bone, the cells differentiated into osteocytes and produced normal collagen with partial correction of the osteogenesis bone phenotype. The cell therapy produced stromal chimerism in which some cells were normal and some carried the osteogenesis imperfecta mutation. A higher proportion of engrafted normal cells is required, however, to achieve the level of stromal chimerism necessary to functionally correct the osteogenesis imperfecta phenotype.
A similar approach also has been used in a pilot study of children with osteogenesis imperfecta. 40 Transplanted allogeneic MSCs bearing a gene marker showed a higher level of engraftment than was observed after whole bone marrow transplantation in the same children. There are, nonetheless, many obstacles to be overcome before allogeneic MSC therapy can be considered to be as safe and as effective as the bisphosphonates in the treatment of severe types of osteogenesis imperfecta. The principal obstacle involves the prevention of graft rejection and graft versus host reaction. Assuming that the latter matters can be prevented, then the next major obstacle is to optimize the cell therapy so that the bone phenotype is improved significantly. A high level of engraftment likely is to be needed but the optimal level may vary in each child depending on the degree of expression of the mutant allele and the growth characteristics of the mutant osteoblasts and mutant osteoblast precursors.

Autografting of genetically-modified bone marrow-derived mesenchymal stromal cells is undergoing laboratory and animal investigation to determine the feasibility of using it in the treatment of osteogenesis imperfecta in humans. 13,54,57,69,78 Autografting overcomes the allogeneic transplantation issues but introduces others relating to the safety and effectiveness of genetically-modified stromal cells. In this approach, bone marrow is harvested and ex vivo the mesenchymal stromal cells are isolated, expanded in numbers, and genetically modified, after which they then are reinfused into the donor. 54,57,62
Three types of genetic modification are being investigated in vitro and in rodents. In the first type, additional normal copies of the mutant gene are introduced into osteogenesis imperfecta mesenchymal stromal cells. 62,68,69 No attempt is made to inactivate the mutant allele. In the second type, the genetic modifications specifically are targeted to inactivate the mutant allele. 36,50,71,83 The latter approach likely will require a separate solution for each family with osteogenesis because few families and individuals share the same mutation. In the third type, other genes such as the human growth gene may be introduced into the osteogenesis imperfecta MSCs. 78 Genetically-modified MSCs have not been evaluated in humans with osteogenesis imperfecta.

here is the surgery part:

Surgery
Fractures in patients with osteogenesis imperfecta Type IA usually are treated in the same way as similar fractures in healthy children. 21 The main difference is that the period of immobilization is shortened. It is important to avoid malunions, particularly in the proximal femur because recurrent fractures, requiring realignment osteotomy and intramedullary rodding, may follow. Progressive scoliosis in adolescence may require spinal fusion with instrumentation. 37 Adults with osteogenesis imperfecta Type IA may have many fractures develop after a period of inactivity or after pregnancies and menopause. 74 Oral bisphosphonates may be needed to improve bone mass. Some children may have recurring fractures as a result of the severity of their osteopenia. Such children also may need to be considered for bisphosphonate treatment although to date, the use of this drug has been confined to patients with the severe forms of the disease.
In the prebisphosphonate era, corrective osteotomies and intramedullary roddings often were done to prevent progressive deformities and recurrent fractures in children with severe forms of osteogenesis imperfecta. 10,21 Such surgery often was done in children who were confined to wheelchairs. The surgical technique of fragmentation and rodding has been modified over several decades. 4,85?87 Currently, corrective osteotomies are done through small incisions to preserve the blood supply to the bone and to maximize healing. 22,47,85 Expanding intramedullary rods are used whenever possible. Although many technical problems have been reported, some centers have reported a low rate of complications. 42,44,52,66,85
Randomized trials are needed to determine the indications for and the type of surgery in patients receiving bisphosphonates for severe forms of osteogenesis imperfecta. Current results of bisphosphonate treatment indicate that walking and running can be expected in many children who previously would have died within the first year of life or have been confined to a wheelchair. 3,9,33,46,65 Increased activity levels also have been observed in moderately affected children receiving bisphosphonates. In these children, malunions of subtrochanteric fractures of the femur are common and consequently there is a continuing need to realign the femur and internally support it with a rod. In the prebisphosphonate era, expanding rods were used in preference to nonexpanding rods to stop the distal femur from bowing anteromedially with growth beyond the end of the rod. 66 It is unclear whether it still is necessary to use expanding rods because the new bone formed during growth will have been exposed to bisphosphonates and may no longer bow anteromedially. Intramedullary rodding is used much less frequently in other bones. It may be needed in the tibia, forearm, or humerus.
Progressive spinal deformities and basilar impression are two major problems in children with moderate and severe forms of osteogenesis imperfecta. 2,37,38,51,73 Surgical treatment often is difficult or impossible because of the severity of the deformities and the fragility of the spine. 29,37,41,56 It is to be hoped that the early commencement of bisphosphonate treatment will prevent these serious deformities.

Orthotics
Orthotics often are used to stabilize lax joints, such as the ankle and subtalar joints, and to prevent progressive deformities and fractures. 10 Commonly used devices include ankle-foot, knee-ankle-foot, and forearm orthoses. The role of orthotics in the bisphosphonate era needs to be reevaluated.
Future Directions
Future advances are likely to include the identification of additional genes that cause osteogenesis imperfecta. New insights into the primary and secondary genetic consequences of the mutations should provide a better understanding of the pathogenesis of osteogenesis imperfecta and its related and overlapping syndromes. The latter advances will enable the classification of osteogenesis imperfecta to be improved and enable treatment trials to be stratified accordingly. The treatment options also are likely to expand with new or modified pharmaceutical, cell therapy, and gene therapy protocols. As these advances occur, it is likely that the role of surgery, orthotics, and physical therapy will diminish.
Glossary
COL1A1 = the gene encoding the pro-[alpha]1(I) protein chain.
COL1A2 = the gene encoding the pro-[alpha]2(I) protein chain.
Gly-X-Y = the repeating amino acid triplet of the helical domain of the collagen chains in which GLY is the amino acid glycine whereas X and Y can be any amino acid.
Pro-[alpha]1(I) and pro-[alpha]2(I) = the proteins chains of Type I collagen.

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well they can give pamidronate in nepal
calcitonin should be available as well
intra-medullary rods are only useful in new fractures- i doubt if old broken and healed bones would or should be re-broken and re-set but im not an othopaedician.
even if such a procecedure is done,what about physiotherapy/OT and rehab?Its going to take a long long time to heal-where will it be done and who will pay?
im not trying to be negative but playing the devils advocate here.
anyone else with a thought?

Most Probably the surgery they are talking about is the
Fassier-Duval Telescopic IM System which includes placement of nails (as orthopedic surgeons call it) to prevent future fracture in this particular case with minimal interception.

My Suggestion:

There must be hundreds of other in Nepal who suffer from similar conditions and gone untreated and suffering. So instead of spending 100,000 plus on one individual and if we can raise that kind of money, why not to buy the instrument and train an orthopedic surgeon in Nepal who can fix this. For the training purpose, I am sure the hospitals who have facilities to treat OI will be willing to train a doctor from Nepal.

I went through the procedure and it is not very different from IM nailing that Orthopedic Surgeons perform regularly in Nepal.

So the plan of action to provide service also for those who do NOT have access like Mr. Bania and benefit of many other suffers. Helping an individual is human and helping only one person is myopic too.

1. Find the price for the instruments.

2. Contact with Nepal Orthopedic Surgeons Association of possibility train a surgeon to fix with Fassier-Duval Telescopic IM System.

3. Correspondence with academic/medical settings where they will train a Nepali surgeon or even the device companies may have such training systems.

4. I am pretty sure if we can raise funds to buy instruments, we can find surgeon who will perform that kind of operations pro bono.

5. Service to more and more OI patients. (main purpose)

Locum

I agree with you.

The aspect of humanity is there but you have to weigh in the practical aspect too.

Locum

I think with 100,000 plus, we can have a new setting for OI's in Nepal.

urbi, rhythm, wheels, ladycroft and money minded,

I am willing to coordinate this and see if we can buy the instuments and train a nepali doctor.
How much are you guys willing to contribute personally?

mmm... shirish.. I din read all that you posted.. I mean that was too long... so long story short, could you please sort of summarize what your idea is.. and what advice are you giving...

sorry to be a pain... but tht was immesely long!:(

Rhythm

to make story short:

There are preventable treatments available for OI but no TREATMENT to cure OI.
I am pretty sure Bania's have been told by all the doctors they saw.

The surgery they are talking is most probably about the IM to prevent furture fractures. (Fassier-Duval Telescopic IM System)
Fassier-Duval Telescopic IM System is very much alike the regular IM that orthopedic surgeon perform probably on day to day basis. They may not have this specific instrument because of the rarity of the need to perform such operations.

My suggestion was instead of helping one individual, lets get the instruments and rest can be done in Nepal for more sufferers as every one is not as resourceful as Mr. Bania (I do understand the agony of Mr. Bania).

I dont mind to volunteer to coordinate as people like you are so eager to donate. With 100,000$ we can establish a center in Nepal (with existing orthopedic centers) that help patients like Bania's on long term basis especially with OI Type III who need prolonged orthopedic care.

I want to contact the DR. here who is willing to Rx Bania's and explain my proposal.

I also know my posting may fraustate Mr. Bania who is attempting to raise funds for his children but keeping in view of other's who do not have access to media or knowledgable relatives, getting the instruments needed and training a doctor would prove to be more cost effective and more service to more ailings.

OKi.. gotchha... but if we do arrange for all the instruments.. do you think there is a doc in Nepal who will be able to perform the surgery? I mean if there is no instruments there at present (I guess thats what you are implementing), will they be able to perform the surgery? Just wondering.

Rhythm

I think we should clearify first what kind of surgery he is going to have ?

Corrective for the disfigurement he has? or preventive.

I went through OI foundation and NIH website and the IM Rodding or simply putting a rod inside the long bones for future fracture is not any different than the regular IM.

check this

http://www.osteo.org/newfile.asp?doc=i103i&doctitle=Rodding+Surgery+in+Children+with+Osteogenesis+Imperfecta&doctype=HTML+Fact+Sheet

I am pretty sure Orthopedic Surgeons in Nepal can do this. But the question is why they have been denied that? May be poor prognosis and doctors did not want to be involved.

The (Fassier-Duval Telescopic IM System) is pretty new technique and minimally invasive.

Moneyminded

I thought you had GENUINE interest in helping out these kids and I am surprised with your silence.

I should have understood your nick at the first place. My mistake.

Posted on 06-03-05 8:08 AM Reply | Notify Admin
ell they can give pamidronate in nepal
calcitonin should be available as well
intra-medullary rods are only useful in new fractures- i doubt if old broken and healed bones would or should be re-broken and re-set but im not an othopaedician.
even if such a procecedure is done,what about physiotherapy/OT and rehab?Its going to take a long long time to heal-where will it be done and who will pay?
im not trying to be negative but playing the devils advocate here.
anyone else with a thought?


F-D rods are not only used in acute fractures. They are use to straighten bowing deformities to prevent fractures and allow ambulation. My daughter had F-D rods placed in her femurs at 19 months due to in utero bowing and walked independently 6 weeks later.

I like your idea of taking the rods to this family and the Pamidronate and therefore you can help more families within Nepal. You can go to http://pegamedical.com and get more info on the F-D rod which really is superior and Pegamedical may send someone to your orthopedist to instruct on it's use. OIF is not always the best source for new proactive information.

Thanks Doc

These Money minded and et al are not serious with the treatment.

I felt after their non response that Mr. Bania's main aim is to get his kids treated in US than possibly helping other kids with OI.

hmm...Shirish, where did you copy paste that from? and how are people supposed to understand all those technical terms? sorry for my out of context remarks, but how to collect 100,000$? Mr. baniya's kid will get that treatment probably much cheaper, and who wants to compromise his/her kid's life for the sake of humanity?? lets get a lil realistic here.

DC Girl

I understand what you are saying and I also understand what I posted. That was from the medline search.

My intention of posting that was to make you aware whats available as Rx of OI.

The base line: There is no treatment for OI.
However,
There are preventive treatements available with surgery to reduce the furture fractures.
There are corrective surgeries available.

How much will it help Mr. Bania's kids depends upon the severity of deformity.

I would like to rest my case on this because more we keep going more will be fraustation and will direct away from Mr. Bania's cause and I do not want to piss him off anymore.