Active clinical trials for "Limb Deformities, Congenital"

This will be a prospective study over a 14-month duration with clinical evaluations throughout. Limitless Solutions will provide prosthetics and training system for study subjects that qualify for enrollment.

This registry is a observational, single-center study designed to collect clinical data on patients with achondroplasia and hypochondroplasia.

Kosaki overgrowth syndrome (KOGS) and Penttinen syndrome (PS) are extremely rare multisystem disorders caused by heterozygous activating variants of the PDGFRB gene. KOGS results in characteristic craniofacial, orthopedic, skin and neurological disorders. PS is a progeroid disease responsible for a prematurely aged appearance. Patients suffer significant morbidity and mortality due to various complications. Tyrosine Kinase Inhibitors (TKIs) targeting PGDFRB appear to be a potential treatment option, as evidenced by a few case reports showing clinical improvement in some patients, with modest and self-resolving side effects. The natural history of these two syndromes remains poorly understood as only case-reports have been published. Therefore, an international consortium was created in December 2019 by Pr FAIVRE (CHU Dijon Bourgogne & ERN ITHACA) to follow treated and untreated patients in a real-life, multicentre, observational study, in order to expand our knowledge of these ultra-rare diseases. In the longer term, we believe that TKIs could bring clinical benefit to KOGS/PS patients.

This study is conducted to describe the efficacy and safety of recombinant human growth hormone (r-hGH) treatment Saizen® on children with hypochondroplasia.

Getting the incidence of upper limb anomalies in our department from 2000 to 2020 and classifying them using IFSSH classification and OMT classification

The comfort and fit of the residual limb within a prosthetic socket are of primary concern for many amputees. The residual limb is typically covered by non-breathable and non- thermally conductive materials that can create a warm and ultimately moist environment. The investigators have developed a silicone liner approach to remove sweat from the skin and out of the socket and to passively conduct heat from the skin using thermally conductive elastomers. This liner has been developed to work alongside a thermo-electric cooling (TEC)-based module called the Intrasocket Cooling Element (ICE) developed in a parallel project by Vivonics, Inc. and Liberating Technologies, Inc. The ICE device can be embedded into the prosthesis in order to cool the residual limb. A technology that can provide thermal control while retaining adequate suspension, weight, and other prosthetic characteristics would benefit many prosthesis wearers.

This is a study being performed to evaluate the safety and effectiveness of 3D printed myoelectric prosthetic devices in children with a congenital upper limb deficiency.

Patients with congenital or acquired upper limb structural abnormalities and peripheral nerve or brachial plexus palsies have significant loss of function. The use of orthoses may improve function particularly in performing specific tasks for which the orthoses are designed, depending on the patients' deficiencies and needs. The performance of orthoses may be enhanced by being light-weight, motor-driven, and ergonomic. This pilot, prospective study is designed to test the feasibility and effectiveness of the specially designed orthoses.

This study will examine blood or other tissue samples from patients with Fraser syndrome and patients with Fryns syndrome to try to identify the gene responsible for these diseases. Fraser syndrome is characterized by congenital abnormalities including cryptophthalmos (lack of eyelid formation), syndactyly (webbed fingers or toes) and abnormal genitalia. Patients may also have abnormalities of the nose, ears and larynx (voice box), cleft lip or palate, and kidney agenesis. Fryns syndrome is characterized by hernia through the diaphragm, cloudy cornea, coarse facial features, cleft lip or palate, abnormal fingers and toes, heart, kidney and brain malformations and hydrocephalus (accumulation of fluid around the brain). This protocol consists of laboratory study only; it does not involve patient care or patient counseling. Patients with Fraser syndrome or Fryns syndrome are eligible for this study. Parents and healthy siblings of patients will also be included for genetic study, and parents of children with undiagnosed multiple congenital anomalies syndromes will be included for comparison study. Participants will provide a blood sample (about 8 to 10 teaspoons from adults; 1 to 3 teaspoons from children) or sample of skin cells collected by swabbing the inner surface of the cheek. Some patients may undergo a skin biopsy, in which a small skin sample (about 1/8-inch in diameter) is surgically removed. The tissue samples will be used to obtain DNA (genetic material) for laboratory testing. A permanent cell line-a collection of cells grown in the laboratory from the original tissue specimen-will also be established to enable additional testing in the future.