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31 studies found for:    "hystrix-like ichthyosis with deafness" OR "Ichthyosis"
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Rank Status Study
21 Recruiting Examination of Clinical and Laboratory Abnormalities in Patients With Defective DNA Repair: Xeroderma Pigmentosum, Cockayne Syndrome, or Trichothiodystrophy
Conditions: Cockayne Syndrome;   Skin Cancer;   Xeroderma Pigmentosum;   Trichothiodystrophy;   Genodermatosis
Intervention:
22 Active, not recruiting Clinical Trial Using Humira in Netherton Syndrome
Condition: Netherton Syndrome
Intervention: Drug: Adalimumab
23 Recruiting Natural History and Biological Study of Netherton Syndrome
Conditions: Netherton Syndrome;   Healthy
Interventions: Other: Biopsy;   Other: Blood sample
24 Recruiting Gene Therapy for Netherton Syndrome
Condition: Netherton Syndrome
Intervention: Genetic: One 20cm2/10cm2 autologous skin sheet graft
25 Completed
Has Results
Safety Study of Elidel (Pimecrolimus) 1% Cream to Treat Netherton Syndrome
Condition: Netherton Syndrome
Intervention: Drug: Pimecrolimus 1% Cream
26 Recruiting International Registry Study of Neutral Lipid Storage Disease (NLSD) / Triglyceride Deposit Cardiomyovasculopathy (TGCV) and Related Diseases
Condition: Neutral Lipid Storage Disease
Intervention:
27 Recruiting Clinical Study on the Safety of CNT-02 for TGCV and NLSD-M
Conditions: Primary Triglyceride Deposit Cardiomyovasculopathy (TGCV);   Neutral Lipid Storage Disease With Myopathy (NLSD-M)
Intervention: Dietary Supplement: CNT-02
28 Recruiting Fat and Sugar Metabolism During Exercise in Patients With Metabolic Myopathy
Conditions: Metabolism, Inborn Errors;   Lipid Metabolism, Inborn Errors;   Carbohydrate Metabolism, Inborn Errors;   Long-Chain 3-Hydroxyacyl-CoA Dehydrogenase Deficiency;   Glycogenin-1 Deficiency (Glycogen Storage Disease Type XV);   Carnitine Palmitoyl Transferase 2 Deficiency;   VLCAD Deficiency;   Medium-chain Acyl-CoA Dehydrogenase Deficiency;   Multiple Acyl-CoA Dehydrogenase Deficiency;   Carnitine Transporter Deficiency;   Neutral Lipid Storage Disease;   Glycogen Storage Disease Type II;   Glycogen Storage Disease Type III;   Glycogen Storage Disease Type IV;   Glycogen Storage Disease Type V;   Muscle Phosphofructokinase Deficiency;   Phosphoglucomutase 1 Deficiency;   Phosphoglycerate Mutase Deficiency;   Phosphoglycerate Kinase Deficiency;   Phosphorylase Kinase Deficiency;   Beta Enolase Deficiency;   Lactate Dehydrogenase Deficiency;   Glycogen Synthase Deficiency
Intervention: Other: Sugar
29 Completed The Effect of Fibrate Therapy in Two Patients With Neutral Lipid Storage Disease With Myopathy (NLSDM)
Condition: Neutral Lipid Storage Disease
Intervention: Drug: Fibrate treatment
30 Completed A Study Evaluating the Safety and Efficacy of Topical BPR277 for the Treatment of Atopic Dermatitis and Netherton Syndrome
Conditions: Healthy Volunteers;   Atopic Dermatitis;   Netherton Syndrome
Interventions: Drug: BPR277 ointment (controlled application);   Drug: Placebo (Vehicle);   Drug: BPR277 ointment;   Drug: BPR277
31 Completed The Evaluation of Oral Acitretin in the Treatment of Psoriasis, Cutaneous Disorders of Keratinization, Multiple Basal Cell Carcinomas and Other Retinoid Responsive Diseases
Conditions: Basal Cell Carcinoma;   Keratosis Palmaris et Plantaris;   Psoriasis
Intervention:

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Study has passed its completion date and status has not been verified in more than two years.