5 studies found for:    NEUROPATHY, HEREDITARY SENSORY, X-LINKED
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Rank Status Study
1 Recruiting Genetics of Pediatric-Onset Motor Neuron and Neuromuscular Diseases
Conditions: Spinal Muscular Atrophy;   Charcot-Marie-Tooth Disease;   Muscular Dystrophy;   Spinal Muscular Atrophy With Respiratory Distress 1;   Amyotrophic Lateral Sclerosis;   Motor Neuron Disease;   Neuromuscular Disease;   Peroneal Muscular Atrophy;   Fragile X Syndrome
Intervention: Other: sample collection
2 Recruiting Inherited Retinal Degenerative Disease Registry
Conditions: Eye Diseases Hereditary;   Retinal Disease;   Achromatopsia;   Bardet-Biedl Syndrome;   Bassen-Kornzweig Syndrome;   Batten Disease;   Best Disease;   Choroidal Dystrophy;   Choroideremia;   Cone Dystrophy;   Cone-Rod Dystrophy;   Congenital Stationary Night Blindness;   Enhanced S-Cone Syndrome;   Fundus Albipunctatus;   Goldmann-Favre Syndrome;   Gyrate Atrophy;   Juvenile Macular Degeneration;   Kearns-Sayre Syndrome;   Leber Congenital Amaurosis;   Refsum Syndrome;   Retinitis Pigmentosa;   Retinitis Punctata Albescens;   Retinoschisis;   Rod-Cone Dystrophy;   Rod Dystrophy;   Rod Monochromacy;   Stargardt Disease;   Usher Syndrome
Intervention:
3 Completed Compassionate Treatment of Patients With Inborn Errors of Bile Acid Metabolism With Cholic Acid
Conditions: Infantile Refsum's Disease;   Zellweger Syndrome;   Adrenoleukodystrophy;   Peroxisomal Disorders;   Cholestasis
Intervention: Drug: Cholic Acids
4 Terminated Study of Bile Acids in Patients With Peroxisomal Disorders
Conditions: Infantile Refsum's Disease;   Zellweger Syndrome;   Bifunctional Enzyme Deficiency;   Adrenoleukodystrophy
Interventions: Drug: chenodeoxycholic acid;   Drug: cholic acid;   Drug: ursodiol
5 Recruiting Clinical and Molecular Investigations Into Ciliopathies
Conditions: Autosomal Recessive Polycystic Kidney Disease;   Congenital Hepatic Fibrosis;   Caroli's Disease;   Polycystic Kidney Disease;   Joubert Syndrome;   Cerebro-Oculo-Renal Syndromes;   COACH Syndrome;   Senior-Loken Syndrome;   Dekaban-Arima Syndrome;   Cogan Oculomotor Apraxia;   Nephronophthisis;   Bardet-Biedl Syndrome;   Alstrom Syndrome;   Oral-Facial-Digital Syndrome
Intervention:

Indicates status has not been verified in more than two years